Article
Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family.
Neural plasticity - 1 Jan 2020
Qiu Yue, Chen Sen, Wu Xia, Zhang Wen-Juan, Xie Wen, Jin Yuan, Xie Le, Xu Kai, Bai Xue, Zhang Hui-Min, Liu Xiao-Zhou, Wang Xiao-Hui, Sun Yu, Kong Wei-Jia
Abstract excerpt
Jervell and Lange-Nielsen syndrome (JLNS) is a rare but severe autosomal recessive disease characterized by profound congenital deafness and a prolonged QTc interval (greater than 500 milliseconds) in the ECG waveforms. The prevalence of JLNS is about 1/1000000 to 1/200000 around the world. However, exceed 25% of JLNS patients suffered sudden cardiac death with kinds of triggers containing anesthesia....
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